Sleep is critically important to children’s health and well-being. Untreated sleep disturbances and sleep disorders pose significant adverse daytime consequences and place children at considerable risk for poor health outcomes. Sleep disturbances occur at a greater frequency in children with acute and chronic medical conditions compared to otherwise healthy peers. Sleep disturbances in medically ill children can be associated with sleep disorders (e.g., sleep disordered breathing, restless leg syndrome), co-morbid with acute and chronic conditions (e.g., asthma, arthritis, cancer), or secondary to underlying disease-related mechanisms (e.g. airway restriction, inflammation) treatment regimens, or hospitalization. Clinical management should include a multidisciplinary approach with particular emphasis on routine, regular sleep assessments and prevention of daytime consequences and promotion of healthy sleep habits and health outcomes.
Sleep; pediatric; chronic illness
The purpose of this paper is to provide primary care physicians and medical specialists with an experiential psychosomatic framework for understanding patients with body distress symptoms. The framework relies on somatic awareness, a normal part of consciousness, to resolve the dualism inherent in conventional multidisciplinary approaches. Somatic awareness represents a guiding healing heuristic which acknowledges the validity of the patient's physical symptoms and uses body sensations to identify the psychological, physiological, and social factors needed for symptom self-regulation. The experiential approach is based on psychobiologic concepts which include bodily distress disorder, central sensitization, dysfunctional breathing, and contextual nature of mood.
We applied a novel approach to respiratory waveform analysis - Monotone Signal Segments Analysis (MSSA) on 6-h recordings of respiratory signals in rats. To validate MSSA as a respiratory signal analysis tool we tested it by detecting: breaths and breath-to-breath intervals; by detecting respiratory timing and volume modes; and by detecting changes in respiratory pattern caused by lesions of monoaminergic systems in rats.
MSSA differentiated three respiratory timing (tachypneic, eupneic, bradypneic-apneic), and three volume (artifacts, normovolemic, hypervolemic-sighs) modes. Lesion-induced respiratory pattern modulation was visible as shifts in the distributions of monotone signal segment amplitudes, and of breath-to-breath intervals. Specifically, noradrenergic lesion induced an increase in mean volume (p ≤ 0.03), with no change of the mean breath-to-breath interval duration (p ≥ 0.06). MSSA of timing modes detected noradrenergic lesion-induced interdependent changes in the balance of eupneic (decrease; p ≤ 0.02), and tachypneic (an increase; p ≤ 0.02) breath intervals with respect to control. In terms of breath durations within each timing mode, there was a tendency toward prolongation of the eupneic (p ≤ 0.08) and bradypneic-apneic (p ≤ 0.06) intervals. These results demonstrate that MSSA is sensitive to subtle shifts in respiratory rhythmogenesis not detectable by simple respiratory pattern descriptive statistics. MSSA represents a potentially valuable new tool for investigations of respiratory pattern control.
monotone signal segments analysis; breath detection; breath-to-breath interval; rat; respiratory pattern modulation; monoaminergic lesion
This review discusses the pathophysiological aspects of sleep-disordered breathing, with focus on upper airway mechanics in obstructive and central sleep apnoea, Cheyne-Stokes respiration and obesity hypoventilation syndrome. These disorders constitute the end points of a spectrum with distinct yet interrelated mechanisms that lead to substantial pathology, i.e. increased upper airway collapsibility, control of breathing instability, increased work of breathing, disturbed ventilatory system mechanics and neurohormonal changes. Concepts are changing. Although sleep apnoea is considered more and more to be an increased loop gain disorder, the central type of apnoea is now considered as an obstructive event, because it causes pharyngeal narrowing, associated with prolonged expiration. Although a unifying concept for the pathogenesis is lacking, it seems that these patients are in a vicious circle. Knowledge of common patterns of sleep-disordered breathing may help to identify these patients and guide therapy.
Central sleep apnoea; Cheyne-Stokes breathing; Obesity hypoventilation syndrome; Obstructive sleep apnoea
Breathing techniques are regularly recommended for relaxation, stress management, control of psychophysiological states, and to improve organ function. Yogic breathing, defined as a manipulation of breath movement, has been shown to positively affect immune function, autonomic nervous system imbalances, and psychological or stress-related disorders. The aim of this study was to assess and provide a comprehensive review of the physiological mechanisms, the mind–body connection, and the benefits of Sudarshan Kriya Yoga (SKY) in a wide range of clinical conditions. Various online databases searched were Medline, Psychinfo, EMBASE, and Google Scholar. All the results were carefully screened and articles on SKY were selected. The references from these articles were checked to find any other potentially relevant articles. SKY, a unique yogic breathing practice, involves several types of cyclical breathing patterns, ranging from slow and calming to rapid and stimulating. There is mounting evidence to suggest that SKY can be a beneficial, low-risk, low-cost adjunct to the treatment of stress, anxiety, post-traumatic stress disorder, depression, stress-related medical illnesses, substance abuse, and rehabilitation of criminal offenders.
Depression; pranayama; stress; sudarshan kriya yoga; vagus nerve stimulation; yogic breathing
Sleep-disordered breathing is a common and serious cause of metabolic, cardiovascular, and neurocognitive morbidity in children. The spectrum of obstructive sleep-disordered breathing ranges from habitual snoring to partial or complete airway obstruction, termed obstructive sleep apnea (OSA). Breathing patterns due to airway narrowing are highly variable, including obstructive cycling, increased respiratory effort, flow limitation, tachypnea, and/or gas exchange abnormalities. As a consequence, sleep homeostasis may be disturbed. Increased upper airway resistance is an essential component of OSA, including any combination of narrowing/retropositioning of the maxilla/mandible and/or adenotonsillar hypertrophy. However, in addition to anatomic factors, the stability of the upper airway is predicated on neuromuscular activation, ventilatory control, and arousal threshold. During sleep, most children with OSA intermittently attain a stable breathing pattern, indicating successful neuromuscular activation. At sleep onset, airway muscle activity is reduced, ventilatory variability increases, and an apneic threshold slightly below eupneic levels is observed in non-REM sleep. Airway collapse is offset by pharyngeal dilator activity in response to hypercapnia and negative lumenal pressure. Ventilatory overshoot results in sudden reduction in airway muscle activation, contributing to obstruction during non-REM sleep. Arousal from sleep exacerbates ventilatory instability and, thus, obstructive cycling. Paroxysmal reductions in pharyngeal dilator activity related to central REM sleep processes likely account for the disproportionate severity of OSA observed during REM sleep. Understanding the pathophysiology of pediatric OSA may permit more precise clinical phenotyping, and therefore improve or target therapies related to anatomy, neuromuscular compensation, ventilatory control, and/or arousal threshold.
children; sleep-disordered breathing
AIMS--To analyse the breath of patients with schizophrenia for the presence of abnormal volatile organic compounds. METHODS--A case comparison study was performed in two community hospitals in Staten Island, New York. Twenty five patients with schizophrenia, 26 patients with other psychiatric disorders, and 38 normal controls were studied. Alveolar breath samples were collected from all participants, and volatile organic compounds in the breath were assayed by gas chromatography with mass spectroscopy. Differences in the distribution of volatile organic compounds between the three groups were compared by computerised pattern recognition analysis. RESULTS--Forty eight different volatile organic compounds were observed in the breath samples. Three separate pattern recognition methods indicated an increased differentiation capability between the patients with schizophrenia and the other subjects. Pattern recognition category classification models using 11 of these volatile organic compounds identified the patients with schizophrenia with a sensitivity of 80.0% and a specificity of 61.9%. Volatile organic compounds in breath were not significantly affected by drug therapy, age, sex, smoking, diet, or race. CONCLUSIONS--Microanalysis of volatile organic compounds in breath combined with pattern recognition analysis of data may provide a new approach to the diagnosis and understanding of schizophrenia. The physiological basis of these findings is still speculative.
Sleep-disordered breathing has been implicated in hypertension, but whether daytime breathing is a factor in blood pressure regulation has not been investigated to date. The present study sought to determine the role of breathing pattern in salt sensitivity of blood pressure.
Methods and Results
Thirty-six women, ages 40–70, were placed on a six-day low sodium/low potassium diet followed by a six day high sodium/low potassium diet. Breathing pattern at rest and 24-hr ambulatory blood pressure were monitored at baseline and after each six-day diet period. Respiratory rate (but not tidal volume or minute ventilation) was an inverse predictor of systolic (r = −0.50 p <.001) and diastolic (r = = −0.59; p <.001) blood pressure sensitivity to high sodium intake. Respiratory rate was positively associated with hemoglobin (r = +0.38; p <.01), and the salt-induced change in hemoglobin was associated with salt-induced change in blood pressure (r= −0.35; p <.05).
These findings indicate that a pattern of slow breathing not compensated by increased tidal volume is associated with salt sensitivity of blood pressure in women. Breathing patterns could play a role in the hypertensive response via sustained effects on blood gases and acid-base balance, and/or be a marker for other biological factors mediating the cardiovascular response to dietary salt intake.
blood pressure; hypertension; respiration; sodium
Disorders of respiratory control are a prominent feature of Rett syndrome (RTT), a severely debilitating condition caused by mutations in the gene encoding methyl-CpG-binding protein 2 (MECP2). RTT patients present with a complex respiratory phenotype that can include periods of hyperventilation, apnea, breath holds terminated by Valsalva maneuvers, forced and deep breathing and apneustic breathing, as well as abnormalities of heart rate control and cardiorespiratory integration. Recent studies of mouse models of RTT have begun to shed light on neurologic deficits that likely contribute to respiratory dysfunction including, in particular, defects in neurochemical signaling resulting from abnormal patterns of neurotransmitter and neuromodulator expression. The authors hypothesize that breathing dysregulation in RTT results from disturbances in mechanisms that modulate the respiratory rhythm, acting either alone or in combination with more subtle disturbances in rhythm and pattern generation. This article reviews the evidence underlying this hypothesis as well as recent efforts to translate our emerging understanding of neurochemical defects in mouse models of RTT into preclinical trials of potential treatments for respiratory dysfunction in this disease.
Pierre Robin sequence (PRS) is classically described as a triad of micrognathia, glossoptosis, and airway obstruction. Infants frequently present at birth with a hypoplastic mandible and difficulty breathing. The smaller mandible displaces the tongue posteriorly, resulting in obstruction of the airway. Typically, a wide U-shaped cleft palate is also associated with this phenomenon. PRS is not a syndrome in itself, but rather a sequence of disorders, with one abnormality resulting in the next. However, it is related to several other craniofacial anomalies and may appear in conjunction with a syndromic diagnosis, such as velocardiofacial and Stickler syndromes.
Infants with PRS should be evaluated by a multidisciplinary team to assess the anatomic findings, delineate the source of airway obstruction, and address airway and feeding issues. Positioning will resolve the airway obstruction in ~70% of cases. In the correct position, most children will also be able to feed normally. If the infant continues to show evidence of desaturation, then placement of a nasopharyngeal tube is indicated. Early feeding via a nasogastric tube may also reduce the amount of energy needed and allow for early weight gain. A proportion of PRS infants do not respond to conservative measures and will require further intervention. Prior to considering any surgical procedure, the clinician should first rule out any sources of obstruction below the base of the tongue that would necessitate a tracheostomy. The two most common procedures for treatment, tongue–lip adhesion and distraction osteogenesis of the mandible, are discussed.
Pierre Robin sequence; micrognathia; glossoptosis; airway obstruction; distraction osteogenesis
Breathing is maintained and controlled by a network of automatic neurons in the brainstem that generate respiratory rhythm and receive regulatory inputs. Breathing complexity therefore arises from respiratory central pattern generators modulated by peripheral and supra-spinal inputs. Very little is known on the brainstem neural substrates underlying breathing complexity in humans. We used both experimental and theoretical approaches to decipher these mechanisms in healthy humans and patients with chronic obstructive pulmonary disease (COPD). COPD is the most frequent chronic lung disease in the general population mainly due to tobacco smoke. In patients, airflow obstruction associated with hyperinflation and respiratory muscles weakness are key factors contributing to load-capacity imbalance and hence increased respiratory drive. Unexpectedly, we found that the patients breathed with a higher level of complexity during inspiration and expiration than controls. Using functional magnetic resonance imaging (fMRI), we scanned the brain of the participants to analyze the activity of two small regions involved in respiratory rhythmogenesis, the rostral ventro-lateral (VL) medulla (pre-Bötzinger complex) and the caudal VL pons (parafacial group). fMRI revealed in controls higher activity of the VL medulla suggesting active inspiration, while in patients higher activity of the VL pons suggesting active expiration. COPD patients reactivate the parafacial to sustain ventilation. These findings may be involved in the onset of respiratory failure when the neural network becomes overwhelmed by respiratory overload We show that central neural activity correlates with airflow complexity in healthy subjects and COPD patients, at rest and during inspiratory loading. We finally used a theoretical approach of respiratory rhythmogenesis that reproduces the kernel activity of neurons involved in the automatic breathing. The model reveals how a chaotic activity in neurons can contribute to chaos in airflow and reproduces key experimental fMRI findings.
Early diagnosis of lung cancer results in improved survival compared to diagnosis with more advanced disease. Early disease is not reliably indicated by symptoms. Because investigations such as bronchoscopy and needle biopsy have associated risks and substantial costs, they are not suitable for population screening. Hence new easily applicable tests, which can be used to screen individuals at risk, are required. Biomarker testing in exhaled breath samples is a simple, relatively inexpensive, non-invasive approach. Exhaled breath contains volatile and non-volatile organic compounds produced as end-products of metabolic processes and the composition of such compounds varies between healthy subjects and subjects with lung cancer. Many studies have analysed the patterns of these compounds in exhaled breath. In addition studies have also reported that the exhaled breath condensate (EBC) can reveal gene mutations or DNA abnormalities in patients with lung cancer. This review has summarised the scientific evidence demonstrating that lung cancer has distinct chemical profiles in exhaled breath and characteristic genetic changes in EBC. It is not yet possible to accurately identify individuals with lung cancer in at risk populations by any of these techniques. However, analysis of both volatile organic compounds in exhaled breath and of EBC have great potential to become clinically useful diagnostic and screening tools for early stage lung cancer detection.
Lung cancer; biomarkers; volatile organic compounds; exhaled breath
Following a needs assessment, the American Lung Association of the District of Columbia (ALADC) began a 3-year pilot program (1986 to 1989) to improve the health status of 5- to 10-year-old urban black asthmatic children. The authors hypothesized that participation in a 1-day asthma camp curriculum, using a collaborative multidisciplinary team approach between university and community-based staff, would provide an effective educational intervention to teach children and their families daily management strategies for asthma. The 84 participants (mean age: 9.6 years) were predominantly black (93%), male (73%), and from single-parent or single-guardian homes (52.7%). Follow-up interviews suggested that a high percentage of the children were using new techniques such as aerosol/inhalers (78%) and breathing/warm-up exercises (55%). Overall, participation in this novel program was associated with a clinically significant, 36% to 69% reduction in school absences, emergency room visits, and hospitalizations.
This report describes the multidisciplinary phasewise treatment of a 20-year-old female patient having unilateral right TMJ bony (true) ankylosis whose mouth opening was restricted to 2 mm and mandibular retrognathism; additionally, she was also suffering from speech problems, snoring, difficulty in breathing, and low level of self-esteem and self-confidence. Bilateral gap arthroplasty and temporalis myofascial graft interpositioning through preauricular approach were done in surgical phase followed by the aggressive jaw physiotherapy in postsurgical period. Oral prophylaxis and restorations were followed by the fixed orthodontic therapy to resolve bimaxillary protrusion. Advancement sliding genioplasty was performed to enhance the chin button. Speech therapy and psychological counseling were also performed from time to time to boost up the self-esteem and self-confidence. At the end of treatment, facial esthetics was improved considerably and patient got over the impact of disfigurement, impaired functions, and psychosocial stigma. Rationale to use the multidisciplinary team approach in treatment of such cases is discussed.
A multidisciplinary approach with video-assisted thoracoscopic surgery and laparoscopy was used to manage a very rare case of bilateral catamenial pneumothoraces and pelvic endometriosis.
Endometriosis of the lung and the diaphragm is rare. Patients may present with symptoms such as shortness of breath, chest pain, and shoulder pain or they may be asymptomatic. Of note, there have been few reports of bilateral catamenial disease, and no reports, to our knowledge, of bilateral pathology proven pulmonary parenchymal endometriosis.
A 43-year-old with stage IV endometriosis and large leiomyoma underwent a laparoscopic hysterectomy and treatment of endometrial lesions in 2005. In March and April of 2011, she presented with bilateral pneumothoraces. She subsequently underwent video-assisted thoracoscopy as well as resection and fulguration of bilateral lung and diaphragmatic endometriosis. Pathology confirmed endometrial implants in the lung parenchyma bilaterally.
Catamenial pneumothorax is the most common presentation of thoracic endometriosis. However, bilateral catamenial pneumothoraces are rare. To the best of our knowledge, this case reflects the first report of pathology proven bilateral lung and diaphragm endometriosis.
Endometriosis; Catamenial pneumothorax; Leiomyoma
The occurrence of the nephrotic syndrome during mycosis fungoide is very unusual. We report a rare case of mycosis fungoide revealed by hydrops related to nephrotic syndrom in a 37-year old male patient. He has been admitted to intensive care unit because of a breathing distress and a hydrophobs. Whole body computed tomography scan revealed bilateral axillary, cervical lymph nodes, tumoral infiltration of the subcutaneous tissue in the cervicothoracic and abdominal regions, multiples bilateral pulmonary metastasis, bilateral pleural effusion, and abdominal effusion; the kidneys were normal. The patient was staged IVb (T3N3M1). He was treated with CHOP (cyclophosphamide, Doxorubicin, Vincristin and prednisone). Evolution after eight cycles of chemotherapy was spectacular. The development of nephrotic syndrom secondary to mycosis fungoide is rare. It requires a multidisciplinary approach with nephrologists and oncologists.
Nephrotic syndrome; mycosis fungoide; chemotherapy; multidisciplinary
Respiratory failure due to subglottic stenosis is a rare but serious condition. A 22-year-old male presented to the emergency department (ED) with shortness of breath, stridor, and change in tone of voice. The patient did not complain of B-symptoms (fever, weight loss, and night sweats). In the week before this presentation, he was diagnosed with an upper respiratory tract infection with associated bronchospasm and discharged on oral antibiotics and inhaled salbutamol without effect. He developed hypercapnic respiratory failure in the ED after a coughing episode. A normal nasopharyngoscopic examination and a subtle mediastinal abnormality on chest radiograph lead to a working diagnosis of retrosternal subglottic obstruction. The complexities of his airway management and suggestions for multidisciplinary approach are discussed.
Rationale: In adult rats, bilateral ablation of pre-Bötzinger complex (preBötC) neurokinin 1–expressing (NK1R) neurons leads to a progressive and irreversible disruption in breathing pattern, initially during sleep, eventually resulting in an ataxic breathing pattern during wakefulness.
Objectives: Here we determine whether ablation of fewer preBötC NK1R neurons leads to a persistent pattern of disordered breathing during sleep but not during wakefulness.
Methods: Adult male Sprague-Dawley rats (n = 12) were instrumented to record diaphragmatic, abdominal, and neck EMG, and EEG. Fourteen days later, a second surgery was performed to stereotaxically microinject into the preBötC on one side the toxin saporin conjugated to substance P (SP-SAP), which selectively ablates NK1R neurons.
Measurements and Main Results: Postinjection, rats were monitored within a plethysmograph until they were killed (Days 21–51). At Days 6–9 post–unilateral SP-SAP injection, respiratory pattern during sleep, particularly REM sleep, became increasingly disordered, characterized by an increase in frequency of central sleep apnea and hypopneas (36.8 ± 7.4 episodes/h of REM vs. 6 ± 2.0 episodes/h in preinjection controls; P < 0.05), whereas breathing during resting wakefulness remained stable. Unlike bilateral SP-SAP–injected rats, an ataxic breathing pattern did not develop during wakefulness. Rats that were monitored up to 51 days post–SP-SAP injection continued to have sleep-disordered breathing; breathing during wakefulness remained relatively stable. Histologic analysis of the ventrolateral medulla confirmed that NK1R neurons within the preBötC on the injected but not on the contralateral side of the medulla were ablated.
Conclusions: Gradual loss of preBötC NK1R neurons may be an underlying factor of sleep-disordered breathing, in particular of central sleep apnea.
respiratory control; apnea; ventrolateral medulla; saporin; neurokinin 1
The influence of breathing pattern on lung deposition and bronchodilator response to nebulised salbutamol is uncertain. Three different breathing patterns were assessed in eight patients with chronic stable asthma. Salbutamol solution (2.5 mg in 4 ml) mixed with technetium-99m labelled human serum albumin was nebulised by an Acorn nebuliser at a flow rate of 6 litres a minute. Particles with a mass median aerodynamic diameter of 4.8 microns were produced for inhalation by (a) tidal breathing, (b) six tidal breaths followed by three deep breaths, and (c) six tidal breaths followed by three deep breaths with a five second breath hold after each breath. Each breathing pattern was continued for four minutes. There was no significant difference in the percentage of radioaerosol deposited in the lung or in the distribution of radioaerosol within the lung as assessed by gamma camera imaging. Changes in bronchodilator responses as measured by peak expiratory flow rate (PEF), forced expiratory volume in one second (FEV1), and forced vital capacity (FVC) 30, 45, and 60 minutes after inhalation were similar for the three studies. The mean (SEM) maximum percentage change in FEV1 was 44 (7.1), 47 (9.2), and 51 (8.4) for studies 1, 2, and 3 respectively. The percentage of nebulised solution deposited in the body was also similar for the three breathing patterns--that is, 11-13%, of which 98% entered the lung. This study shows that inhaling a nebulised aerosol by tidal breathing, the simplest method, is as effective as tidal breathing with deep breaths with or without a breath hold.
To develop a collaborative approach for the treatment of gastrointestinal carcinoid tumours and carcinoid syndrome.
Leaders in the medical, endocrine, radiologic and surgical treatment of carcinoid disease were selected to present papers at the Carcinoid Syndrome Symposium on Treatment Modalities for Gastrointestinal Carcinoid Tumours and participate in the workshop that followed.
A multidisciplinary symposium with experts in the field of carcinoid syndrome was organized at the University of Calgary. Data presented, participation of the attendees and a review of the literature were used in the workshop to develop a collaborative approach to the management of carcinoid tumours.
Carcinoid tumours are rare and few centres have large experiences in their treatment. Before the development of this collaboration, patients with carcinoid tumours received a unidisciplinary approach depending on referral patterns. The development of a multidisciplinary neuroendocrine clinic helped to unify the approach to these patients, yet a consensus on the treatment of carcinoid tumours was lacking. The expertise at the symposium allowed for consensus and the development of treatment algorithms, including biochemical screening, radiographic localization and surgical intervention, for gastrointestinal carcinoid tumours. The role of medical and hormonal therapy after cytoreducion is presented.
Patients with carcinoid tumours require a multidisciplinary approach to their care.
A respiratory navigator with a fixed acceptance gating window is commonly used to reduce respiratory motion artifacts in cardiac MR. This approach prolongs the scan time and occasionally yields an incomplete dataset due to respiratory drifts. To address this issue, we propose an adaptive gating window approach in which the size and position of the gating window are changed adaptively during the acquisition based on the individual’s breathing pattern. The adaptive gating window tracks the breathing pattern of the subject throughout the scan and adapts the size and position of the gating window such that the gating efficiency is always fixed at a constant value. To investigate the image quality and acquisition time, free breathing cardiac MRI, including both targeted coronary MRI and late gadolinium enhancement (LGE) imaging, was performed in 67 subjects using the proposed navigator technique. Targeted coronary MRI was acquired from eleven healthy adult subjects using both the conventional and proposed adaptive gating window techniques. Fifty-six patients referred for cardiac MRI were also imaged using LGE with the proposed adaptive gating window technique. Subjective and objective image assessments were used to evaluate the proposed method. The results demonstrate that the proposed technique allows free-breathing cardiac MRI in a relatively fixed time without compromising imaging quality due to respiratory motion artifacts.
Free-breathing cardiovascular MRI; respiratory motion compensation; diaphragmatic navigators; gating window
Hypertension is a disorder of sodium regulation that develops over time in a context of the interactions of the individual with the environment. Experimental hypertension can be induced in laboratory animals and normotensive humans via increases in sodium intake under conditions of aversive behavioral control. Readiness for avoidance contingencies includes a breathing pattern characterized by subnormal rate and normal tidal volume. Studies with humans have shown that this inhibitory breathing pattern is associated with increased plasma acidity, increased renal sodium reabsorption, increased secretion of digitalis-like hormones that inhibit sodium-pump activity, and increased vasoconstriction and blood pressure. Behavioral research is needed that defines the necessary and sufficient conditions for inhibitory breathing and its role in the development of hypertension.
Children with neuromuscular disorders with a progressive muscle weakness such as Duchenne Muscular Dystrophy and Spinal Muscular Atrophy frequently develop a progressive scoliosis. A severe scoliosis compromises respiratory function and makes sitting more difficult. Spinal surgery is considered the primary treatment option for correcting severe scoliosis in neuromuscular disorders. Surgery in this population requires a multidisciplinary approach, careful planning, dedicated surgical procedures, and specialized after care.
The guideline is based on scientific evidence and expert opinions. A multidisciplinary working group representing experts from all relevant specialties performed the research. A literature search was conducted to collect scientific evidence in answer to specific questions posed by the working group. Literature was classified according to the level of evidence.
For most aspects of the treatment scientific evidence is scarce and only low level cohort studies were found. Nevertheless, a high degree of consensus was reached about the management of patients with scoliosis in neuromuscular disorders. This was translated into a set of recommendations, which are now officially accepted as a general guideline in the Netherlands.
In order to optimize the treatment for scoliosis in neuromuscular disorders a Dutch guideline has been composed. This evidence-based, multidisciplinary guideline addresses conservative treatment, the preoperative, perioperative, and postoperative care of scoliosis in neuromuscular disorders.
Disorder of sex development (DSD) presents a unique challenge, both diagnostically and in terms of acute and longer-term management. These are relatively rare conditions usually requiring a multidisciplinary approach from the outset and the involvement of a tertiary centre for assessment and management recommendations. This article describes the structure of the multidisciplinary team (MDT) at our centre, with contributions from key members of the team regarding their individual roles. The focus is on the newborn referred for assessment of ambiguous genitalia, rather than on individuals who present in the adolescent period or at other times, although the same MDT involvement is likely to be required. The approach to the initial assessment and management is discussed and the subsequent diagnosis and follow-up presented, with emphasis on the importance of careful transition and long-term support.
disorder of sex development (DSD); intersex; multidisciplinary team; congenital adrenal hyperplasia; gonadal dysgenesis; ambiguous genitalia
Carcinoid tumors are rare, slow-growing neuroendocrine tumors arising from the enterochromaffin cells disseminated throughout the gastrointestinal and bronchopulmonary systems. Though they have been traditionally classified based upon the embryologic site of origin, morphologic pattern, and silver affinity, newer classification systems have been developed to emphasize the considerable clinical and histopathologic variability of carcinoid tumors found within each embryologic site of origin. These neoplasms pose a diagnostic challenge because they are often innocuous at the time of presentation, emphasizing the need for a multidisciplinary diagnostic approach utilizing biochemical analysis, standard cross-sectional imaging, and newer advances in nuclear medicine. Similarly, treatment of both primary and disseminated carcinoid disease reflects the need for a multidisciplinary approach, with surgery remaining the only curative modality. The prognosis for patients with these tumors is generally favorable, however can be quite variable and is related to the location of the primary tumor, extent of metastatic disease at initial presentation, and the time of diagnosis.
Carcinoid cancer; neuroendocrine; somatostatin; chromogranin A; serotonin